ABSTRACT
We present a case report of a patient with incomplete Susac syndrome. He had cognitive impairment, corpus callosum lesions, and vestibulocochlear dysfunction on brainstem auditory evoked responses. He was treated with methylprednisolone and plasmapheresis, improved, and then, also received rituximab. His improvement has been lasting as of this writing. This case shares our experience with a successful treatment of this rare condition that is incompletely understood and lacks well-established treatment guidelines.
ABSTRACT
This is a case report of a 55-year-old man with medication refractory right temporal lobe epilepsy since adolescence. He was found to have bilateral posterior cerebral calcifications on routine head computed tomography with confirmation on magnetic resonance imaging. He also had elevated antibody markers for celiac disease. He was diagnosed with the rare, but well-described syndrome of celiac disease, epilepsy, and cerebral calcifications (CEC). He failed a brief trial of gluten-free diet and went on to have a right temporal lobectomy with sustained freedom from disabling seizures. This case is an example of the growing recognition of neurologic disorders associated with celiac disease. It also provides an example of the characteristic radiographic sign associated with CEC.
Subject(s)
Brain Diseases/diagnosis , Calcinosis/diagnosis , Celiac Disease/diagnosis , Epilepsy, Temporal Lobe/diagnosis , Celiac Disease/diet therapy , Diagnosis, Differential , Electroencephalography , Epilepsy, Temporal Lobe/drug therapy , Epilepsy, Temporal Lobe/surgery , Humans , Magnetic Resonance Imaging , Male , Syndrome , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE: A number of neuromuscular conditions may lead to a dropped head syndrome (DHS), with some patients developing a late onset noninflammatory myopathy affecting only, or predominantly, neck extensor muscles (NEM). The cause, pathogenesis, and nosological classification of this condition are unclear. To further investigate this condition, the authors evaluated the clinical, electrodiagnostic and pathologic findings in seven patients with a myopathic DHS. DESIGN: Analysis of clinical data, electrodiagnostic studies, and muscle biopsies of seven patients, including one set of identical twins, who developed a very late onset myopathy with severe NEM weakness. RESULTS: Age of onset was 61-79 yrs, with the pair of identical twins developing NEM weakness within 1 yr of each other (ages 63 and 64, respectively). Seven patients developed weakness (six slight weakness and one more severe) in muscles other than NEM. The group was characterized by the electromyography (EMG) showing a "myopathic" pattern in cervical paraspinal muscles (7/7), muscle biopsies with nonspecific myopathic changes on histologic stains (7/7), marked abnormalities in NADH dehydrogenase-reacted sections (6/7), desmin-positive sarcoplasmic deposits (1/7), low carnitine levels by biochemical assays (2/7), and mitochondrial changes (3/7). CONCLUSIONS: Myopathic DHS encompasses a wide spectrum of conditions that strongly affect NEM; however, as documented in the monozygotic twins, some patients may suffer from a distinct, genetically determined form of late-onset restricted myopathy leading clinically to DHS.
Subject(s)
Head Movements/physiology , Head/pathology , Muscle, Skeletal/physiopathology , Muscular Atrophy/etiology , Muscular Diseases/physiopathology , Neck Muscles/physiopathology , Neck/pathology , Neuromuscular Diseases/physiopathology , Aged , Cervical Vertebrae/pathology , Desmin , Electromyography , Female , Humans , Male , Middle Aged , Muscle Weakness/physiopathology , Muscle, Skeletal/pathology , Muscular Atrophy/physiopathology , Muscular Diseases/pathology , NADPH Dehydrogenase , Neck Muscles/pathology , Retrospective Studies , Risk Factors , Time Factors , Twins, MonozygoticABSTRACT
A 13-year-old boy with clinical and electrophysiologic findings of Friedreich's ataxia developed unusually prominent myopathy. Skeletal muscle biopsy showed mitochondrial proliferation and structural abnormalities. No mutation was found in skeletal muscle mitochondrial DNA to explain this finding. Molecular genetic and pathologic studies confirmed a diagnosis of Friedreich's ataxia in the proband and affected relatives. Although the Friedreich's ataxia phenotype results from decreased expression of a mitochondrially targeted protein, frataxin, mitochondrial myopathy has not been described as a feature of the disease. The association between the frataxin gene mutation and mitochondrial myopathy in this case suggests that severe or cumulative insults to mitochondrial function may produce myopathic changes in some cases of Friedreich's ataxia. The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease.
